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Objective: To analyze the gene mutation characteristics and survival time of patients with newly diagnosed acute myeloid leukemia (AML) based on next-generation sequencing(NGS) gene detection.
Methods: A retrospective analysis was conducted on the clinical data of 92 patients with AML (non APL) admitted to our hospital from January 2018 to May 2022. AML related genes tested were using NGS, the mutation characteristics and survival time of AML patients were analyzed.
Results: Among the 92 patients, 41 were males and 51 were females. A total of 38 types of gene mutations were detected. Six-two patients carried at least one gere mutation, while no gene mutations were detected in 30 patients. In the group with favourable prognosis ( =14), the frequencies of higher gene mutations were (21.43%, =3), (14.29%, =2). In the group with intermediate prognosis ( =64), the gene mutation frequencies from high to low were (18.75%, =12), (17.19%, =11), (12.50%, =8), (10.94%, =7). In the poor prognosis group ( =14), had higher gene mutation frequency than others(14.29 %, =2 ). Statistical analysis revealed that had a relative hotspot of mutations in the intermediate-risk group, and had a relative hotspot of mutations in the high-risk group ( < 0.05). The correlation analysis of genes with high mutation rates in different prognostic groups, such as , and , with prognosis found that was a factor affecting OS ( < 0.05), while no significant differences were observed for the others( >0.05).
Conclusion: The frequency of gene mutations is high in AML patients, 67.4% of the patients carried at least one gene mutation. The mutation frequency varies among different genes in patients with different karyotypes, and there are obvious dominant mutations. and can be used as factors for evaluating the prognosis of AML.
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http://dx.doi.org/10.19746/j.cnki.issn.1009-2137.2025.03.010 | DOI Listing |
Stem Cell Rev Rep
September 2025
Stem Cells and Metabolism Research Program (STEMM), Research Programs Unit, Faculty of Medicine, University of Helsinki, Helsinki, 00014, Finland.
Mutations in Delta Like Non-Canonical Notch Ligand 1 (DLK1), a paternally expressed imprinted gene, underlie central precocious puberty (CPP), yet the mechanism remains unclear. To test the hypothesis that DLK1 plays a role in gonadotropin releasing hormone (GnRH) neuron ontogeny, 75 base pairs were deleted in both alleles of DLK1 exon 3 with CRISPR-Cas9 in human pluripotent stem cells (hPSCs). This line, exhibiting More than 80% loss of DLK1 protein, was differentiated into GnRH neurons by dual SMAD inhibition (dSMADi), FGF8 treatment and Notch inhibition, as previously described, however, it did not exhibit accelerated GNRH1 expression.
View Article and Find Full Text PDFAntimicrob Agents Chemother
September 2025
GSK, Collegeville, Pennsylvania, USA.
Gepotidacin, a novel, bactericidal, first-in-class triazaacenaphthylene antibacterial, was noninferior to nitrofurantoin in two pivotal trials (EAGLE-2 and EAGLE-3) in females with uncomplicated urinary tract infections (uUTIs). Using pooled data, gepotidacin activity and clinical efficacy were evaluated for subsets of molecularly characterized isolates in the microbiological Intent-to-Treat population. The subsets of isolates were characterized based on phenotypic/MIC criteria; all microbiological failure isolates were also characterized.
View Article and Find Full Text PDFJACC Case Rep
September 2025
Division of Academic Affairs and Research, Orlando Regional Medical Center, Orlando, Florida, USA. Electronic address:
Background: Tachycardia-induced cardiomyopathy (TICM) is typically reversible with rhythm control, but individual susceptibility remains poorly understood and may reflect genetic predisposition.
Case Summary: A 66-year-old woman with paroxysmal atrial fibrillation (AF) presented with new-onset heart failure. Genetic testing identified a likely pathogenic heterozygous ABCC9 gene variant (c.
mBio
September 2025
Department of Biology, Laboratory of Molecular Cell Biology, KU Leuven, Leuven, Flanders, Belgium.
Echinocandins, which target the fungal β-1,3-glucan synthase (Fks), are essential for treating invasive fungal infections, yet resistance is increasingly reported. While resistance typically arises through mutations in Fks hotspots, emerging evidence suggests a contributing role of changes in membrane sterol composition due to mutations. Here, we present a clinical case of () in which combined mutations in and , but not alone, appear to confer echinocandin resistance.
View Article and Find Full Text PDFNucleic Acids Res
September 2025
Shenzhen Key Laboratory of Cardiovascular Disease, Fuwai Shenzhen Hospital, Chinese Academy of Medical Sciences, Shenzhen 518057, China.
EZH2 catalyzes H3K27me3 and is essential for embryonic development. Although multiple EZH2 variants have been identified, the functional implications and physiological significance of its heterogeneity remain unclear. Here, we revealed that conserved cryptic splice sites generated two EZH2 variants with (EZH2A) or without (EZH2B) a 27-nt region, coding for a 9-aa segment.
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